Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic <i>ABCA4</i> variants in an MNGIE patient with Stargardt disease”-Reference-Cited by-同舟云学术

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Response to “Letter to the editor” regarding “Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease”

Published:2023-09-20 Issue:1 Volume:194 Page:119-120
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Wang Heng¹,Ruan Gechong²,Yang Shan¹,Li Hui¹,Sun Zixi¹,Tian Bowen²,Yan Pengguang²,Li Yue²,Yang Hong²,Zhong Yong¹^ORCID,Qian Jiaming²

Affiliation:

1. Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College Beijing China

2. Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College Beijing China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63410

Reference4 articles.

1. Stargardt disease: Multimodal imaging: A review

2. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort

3. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

4. Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review

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